Canonical Allele Identifier: CA993073543

Gene: C3

Linked Data

• dbSNP Id: rs1967870423
• gnomAD v3: 19-6710013-G-GAA
• gnomAD v4: 19-6710013-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6710014_6710015insAA , CM000681.2:g.6710014_6710015insAA	GRCh38
NC_000019.9:g.6710025_6710026insAA , CM000681.1:g.6710025_6710026insAA	GRCh37
NC_000019.8:g.6661025_6661026insAA	NCBI36
NG_009557.1:g.15638_15639insTT , LRG_27:g.15638_15639insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.1564-172_1564-171insTT	ENSP00000512083.1:n.1564-172_1564-171insTT
ENST00000695654.1:c.811-172_811-171insTT	ENSP00000512085.1:n.811-172_811-171insTT
ENST00000695655.1:c.592-136_592-135insTT	ENSP00000512086.1:n.592-136_592-135insTT
ENST00000695692.1:n.1051-172_1051-171insTT
ENST00000245907.11:c.1687-172_1687-171insTT MANE Select	ENSP00000245907.4:n.1687-172_1687-171insTT
ENST00000245907.10:c.1687-172_1687-171insTT	ENSP00000245907.4:n.1687-172_1687-171insTT
ENST00000600763.1:n.320-172_320-171insTT
NM_000064.3:c.1687-172_1687-171insTT	NP_000055.2:n.1687-172_1687-171insTT
NM_000064.4:c.1687-172_1687-171insTT MANE Select	NP_000055.2:n.1687-172_1687-171insTT